Charcot-Marie-Tooth Disease

Definition

Charcot-Marie-Tooth (CMT) disease is a group of genetic disorders that affects movement and feeling in the limbs. The disease progresses slowly and causes damage to the peripheral nerves. These nerves control muscles and transmit sensation.

CMT can be classified in a number of ways:

Type I (demyelinating)—This type affects the coating of the nerve called the myelin sheath, causing nerve impulses to travel more slowly. It usually occurs in childhood or the teen years. It is the most common type of CMT.

Type II (axonal)—This type affects the part of the nerve called the axons. Although the speed is normal, the size or amount of impulses is less than normal. This type of CMT is less common and occurs after the teen years.

Type III—Also called Dejerine-Sottas disease, this is a rare, severe, early onset form of CMT. It is sometimes considered to be a subtype of CMT Type I. Symptoms may include:

Delayed ability to walk due to weakness of the leg muscles closest to the trunk

Severe sensory problems

Hearing loss

Type IV (demyelinating autosomal recessive)—This is similar to Type I, but often less severe.
It is less likely to be inherited by an affected individual's children.

Your doctor may need to test your DNA. This can be done with a blood test.

Treatment

Although there is no cure for CMT, treatment may help to improve function, coordination, and mobility. Treatment is also vital to protect against injury due to muscle weakness and reduced sensation. Treatment may include:

Physical and occupational therapy

Moderate exercise

Braces on the lower legs

Shoe inserts to correct foot deformity

Foot care and routine exams with a foot specialist

Orthopedic surgery

Prevention

There are no known ways to prevent CMT. If you have CMT or have risk factors, you may want to talk to a genetic counselor before deciding to have children.

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.